ClinVar Miner

List of variants in gene TBX1 reported as pathogenic for DiGeorge sequence

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NC_000022.11:g.(?_19755901)_(19759687_?)del rs0
NC_000022.11:g.(?_19755950)_(19759697_?)del rs0
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) rs0
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) rs0
NM_080647.1(TBX1):c.292A>T (p.Lys98Ter) rs1555895466
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.